Disease Information for Episodic ataxia/EA-2/Hemiplegic migraine

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Clinical Manifestations
Signs & Symptoms
Stereotypical Recurrent Attacks
Vomiting
Acute ataxia
Ataxia
Ataxia, Cerebellar type
Central Facial Paralysis
Delirium
Delirium/Agitated delirium
Episodic ataxia
Facial weakness/droop, unilateral
Gait disturbance/abnormality
Headache
Hemiplegic Gait
Irritability/short tempered
Moro Reflex unilateral Abnormal
Scotomata
Staggering Gait
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Vertigo
Episodic symptoms/events
Spells/Episodes of weakness
Blurred Cloudy Vision
Peripheral vision/loss
Photopsia/visual scotomata
Ptosis (blepharoptosis)
Scintillating/positive scotomata
Ear pain/otalgia normal drum
Tinnitus
Tinnitus in Children
Disease Progression
Course/Attacks Episodic Spells
Course/Paroxysmal
Course/Periodic Episodic
Demographics & Risk Factors
Family History
Family history/Ataxia
Associated Diseases & Rule outs
Rule Outs
Cerebral vascular accident
Convulsions (grand mal)
Epilepsy
Meniere's disease
Partial complex seizure
Petit mal seizure disorder
Seizure disorder (epilepsy)
Transient ischemic attack/cerebral
Associated Disease & Complications
Episodic Cerebellar Ataxia, familial
Hemiparesis
Hemiplegia
Stroke /Young adult
Stroke/Child
Syncope/Fainting
Vascular headache
Ataxia Disorder
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 12p13
Pathophysiology/Gene locus 12q22-q23
Pathophysiology/Gene locus 19p13
Pathophysiology/Gene locus 1q21-q23
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus chromosome 19
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Cerebrovascular Dysregulation
Pathophysiology/CNS-Systemic Vertigo
Process
PROCESS/Migraine Syndromes/equivalents
Synonyms
Synonym
hemiplegic migraine, Hemiplegic migraine (disorder), migraine hemiplegic, Synonym/Acetazolamide responsive Parox Cerebellar ataxia, Synonym/APCA [Paroxysmal Cerebellar ataxia), Synonym/Episodic cerebellar ataxia/migraine, Synonym/Paroxysmal cerebellar ataxia, hereditary
Treatment
Drug Therapy - Indication
RX/Acetazolamide (Diamox)
Definition

Episodic ataxia type 2 with attacks lasting days and associated with hemiplegic migraine and migraine is acetazolamide responsive; a calcium channel mutation disorder familial; progressive ataxia occurs interictal with nystagmus;MRI shows vermis atrophy; gene locus 19p13 and 2q22-q23 affected with nonsense mutation with repeats;autosomal dominant disorder.

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Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

Benigna von Brederlow1, Angelika F. Hahn3, Wilma J. Koopman3, George C. Ebers1,2,* and Dennis E. Bulman1,2

1Department of Clinical Neurological Sciences, University Hospital 339 Windermere Road, London, Ontario N6A 5A5 2The Richard lvey Centre for Molecular Biology, University Hospital 339 Windermere Road, London, Ontario N6A 5A5 3Department of Clinical Neurological Sciences, Victoria Hospital London, Ontario, Canada

*To whom correspondence should be addressed

Received September 30, 1994; Revised December 5, 1994; Accepted December 5, 1994

Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated and the APCA locus was found to be linked to the short arm of chromosome 19 in two large kindreds. The microsatellite marker UT705 was found to be linked to the APCA locus with two point analysis yielding a maximum lod score of 8·20 at max = 0·000 in a five generation pedigree. Linkage to this region was confirmed in a second kindred. The absence of known candidate genes in the region may necessitate a positional cloning approach in order to identify the gene for this disorder.

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